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Article

A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.

Lipids in health and disease - 6 May 2014

Qu Ling-Hui, Jin Xin, Li Liang-Mao, Li Shi-Ying, Xie Han-Ping

Abstract excerpt

BACKGROUND: Previous studies indicated that hyperlipidemia was associated with retinitis pigmentosa (RP). We aimed to identify the mutations in the C5L2 gene which was reported to be associated with hyperlipidemia in a Chinese family with (RP). METHODS: The Proband from the family was screened for mutations in the C5L2 gene that was known to cause hyperlipidemia. Cosegregation analysis was performed in the...

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Identifiers

PMID: 24885523
DOI: 10.1186/1476-511X-13-75
PMCID: PMC4084569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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